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531 related items for PubMed ID: 18037103

  • 1. Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion.
    Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanné-Chantelot C, Chauveau D.
    Am J Kidney Dis; 2007 Dec; 50(6):1023-7. PubMed ID: 18037103
    [Abstract] [Full Text] [Related]

  • 2. [Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences].
    Ulinski T, Bensman A, Lescure S.
    Arch Pediatr; 2009 Jul; 16(7):1049-56. PubMed ID: 19361964
    [Abstract] [Full Text] [Related]

  • 3. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
    Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschênes G, Bouissou F, Bensman A, Bellanné-Chantelot C.
    J Am Soc Nephrol; 2006 Feb; 17(2):497-503. PubMed ID: 16371430
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  • 4. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.
    Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S.
    Hum Mol Genet; 2006 Aug 01; 15(15):2363-75. PubMed ID: 16801329
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  • 5. Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.
    Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M.
    Metabolism; 2008 Mar 01; 57(3):416-20. PubMed ID: 18249217
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  • 6. Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.
    Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C.
    Nephrol Dial Transplant; 2008 Feb 01; 23(2):627-35. PubMed ID: 17971380
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  • 7. Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations.
    Lebrun G, Vasiliu V, Bellanné-Chantelot C, Bensman A, Ulinski T, Chrétien Y, Grünfeld JP.
    Nat Clin Pract Nephrol; 2005 Dec 01; 1(2):115-9. PubMed ID: 16932376
    [Abstract] [Full Text] [Related]

  • 8. TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.
    Body-Bechou D, Loget P, D'Herve D, Le Fiblec B, Grebille AG, Le Guern H, Labarthe C, Redpath M, Cabaret-Dufour AS, Sylvie O, Fievet A, Antignac C, Heidet L, Taque S, Patrice P.
    Prenat Diagn; 2014 Jan 01; 34(1):90-3. PubMed ID: 24382792
    [Abstract] [Full Text] [Related]

  • 9. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.
    Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanné-Chantelot C.
    J Am Soc Nephrol; 2007 Mar 01; 18(3):923-33. PubMed ID: 17267738
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
    Ellard S, Colclough K.
    Hum Mutat; 2006 Sep 01; 27(9):854-69. PubMed ID: 16917892
    [Abstract] [Full Text] [Related]

  • 11. Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).
    Beckers D, Bellanné-Chantelot C, Maes M.
    J Pediatr; 2007 Mar 01; 150(3):313-4. PubMed ID: 17307554
    [Abstract] [Full Text] [Related]

  • 12. Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.
    Eller P, Kaser S, Lhotta K, Edghill EL, Ellard S, Ebenbichler C, Patsch JR.
    Nephrol Dial Transplant; 2007 Apr 01; 22(4):1271-2. PubMed ID: 17127696
    [No Abstract] [Full Text] [Related]

  • 13. [Maturity-onset-diabetes-of-the young-5 and genital malformations diagnostic management: case report].
    Defert S, Harika G, Derniaux E, Nakib I.
    J Gynecol Obstet Biol Reprod (Paris); 2010 Apr 01; 39(2):159-62. PubMed ID: 20144512
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  • 20. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
    Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T.
    J Clin Endocrinol Metab; 2004 Jun 01; 89(6):2905-8. PubMed ID: 15181075
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